A novel NOTCH2 mutation identified in a Korean family with hajdu-cheney syndrome showing phenotypic diversity

Mi Seon Han, Jung Min Ko, Tae-Joon Cho, Woong Yang Park, Hae Il Cheong

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

Hajdu-Cheney syndrome (HCS) and serpentine fibula-polycystic kidney syndrome (SFPKS) share many similarities, including craniofacial abnormalities, bony deformities, and renal involvement. Because mutations in exon 34 of NOTCH2 have been identified recently in both HCS and SFPKS patients, it has been suggested that these two syndromes be classed as the same disorder. A 3-year-old boy presented with polycystic kidneys and club feet detected during the fetal period; however, acroosteolysis and curved fibulae were not observed. His mother showed osteoporosis and had a history of compression fractures in the spine without renal anomalies. Although the same novel mutation in NOTCH2 was found in both the mother and her son, these patients displayed different clinical manifestations. In this report, we present a familial case of HCS in a boy and his mother that was suspected on physical examination and radiological findings. We speculate that HCS and SFPKS are a single disease entity with a wide spectrum of clinical manifestations associated with truncating mutations in exon 34 of NOTCH2.

Original languageEnglish
Pages (from-to)110-114
Number of pages5
JournalAnnals of Clinical and Laboratory Science
Volume45
Issue number1
StatePublished - 1 Jan 2015

Fingerprint

Hajdu-Cheney Syndrome
Exons
Mutation
Mothers
Acro-Osteolysis
Craniofacial Abnormalities
Kidney
Compression Fractures
Polycystic Kidney Diseases
Fibula
Nuclear Family
Osteoporosis
Physical Examination
Foot
Spine
Serpentine fibula polycystic kidney syndrome

Keywords

  • Acroosteolysis
  • Hajdu-Cheney syndrome
  • NOTCH2
  • Osteoporosis
  • Serpentine fibula-polycystic kidney syndrome

Cite this

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title = "A novel NOTCH2 mutation identified in a Korean family with hajdu-cheney syndrome showing phenotypic diversity",
abstract = "Hajdu-Cheney syndrome (HCS) and serpentine fibula-polycystic kidney syndrome (SFPKS) share many similarities, including craniofacial abnormalities, bony deformities, and renal involvement. Because mutations in exon 34 of NOTCH2 have been identified recently in both HCS and SFPKS patients, it has been suggested that these two syndromes be classed as the same disorder. A 3-year-old boy presented with polycystic kidneys and club feet detected during the fetal period; however, acroosteolysis and curved fibulae were not observed. His mother showed osteoporosis and had a history of compression fractures in the spine without renal anomalies. Although the same novel mutation in NOTCH2 was found in both the mother and her son, these patients displayed different clinical manifestations. In this report, we present a familial case of HCS in a boy and his mother that was suspected on physical examination and radiological findings. We speculate that HCS and SFPKS are a single disease entity with a wide spectrum of clinical manifestations associated with truncating mutations in exon 34 of NOTCH2.",
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A novel NOTCH2 mutation identified in a Korean family with hajdu-cheney syndrome showing phenotypic diversity. / Han, Mi Seon; Ko, Jung Min; Cho, Tae-Joon; Park, Woong Yang; Cheong, Hae Il.

In: Annals of Clinical and Laboratory Science, Vol. 45, No. 1, 01.01.2015, p. 110-114.

Research output: Contribution to journalArticle

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